A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6218



Internal ID15551105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60572851..60618374hg38UCSC Ensembl
Outerchr8:61485410..61530933hg19UCSC Ensembl
Outerchr8:61647964..61693487hg18UCSC Ensembl
Outerchr8:61647964..61693487hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3845524
hg1945524
hg1845524
hg1745524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6226
SamplesNA12156
Known GenesRAB2A
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv6218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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